P27L (p.Pro27Leu) variant of ASXL3 (Q9C0F0)
P27L (p.Pro27Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 18-33607619-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available